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Did you mean konstantinos tziakas (1 results)?
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Bierhals T, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Hempel M, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR. Pehlivan D, et al. Among authors: tsiakas k. Am J Hum Genet. 2019 Jul 3;105(1):132-150. doi: 10.1016/j.ajhg.2019.05.015. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230720 Free PMC article.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Gauthier J, et al. Among authors: tsiakas k. Ann Neurol. 2018 Jun;83(6):1089-1095. doi: 10.1002/ana.25204. Epub 2018 Apr 10. Ann Neurol. 2018. PMID: 29518281
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: tsiakas k. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.
Exome Sequencing in Children.
Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Mahler EA, et al. Among authors: tsiakas k. Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197. Dtsch Arztebl Int. 2019. PMID: 31056085 Free PMC article.
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R. Andersen PM, et al. Among authors: tsiakas k. N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. N Engl J Med. 2019. PMID: 31314961 No abstract available.
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R. Dulz S, et al. Among authors: tsiakas k. Ophthalmic Genet. 2020 Oct 27:1-5. doi: 10.1080/13816810.2020.1836658. Online ahead of print. Ophthalmic Genet. 2020. PMID: 33107778
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T. Park JH, et al. Among authors: tsiakas k. Genet Med. 2018 Feb;20(2):259-268. doi: 10.1038/gim.2017.106. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749473
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: tsiakas k. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R. Grabhorn E, et al. Among authors: tsiakas k. Liver Transpl. 2014 Apr;20(4):464-72. doi: 10.1002/lt.23830. Epub 2014 Feb 25. Liver Transpl. 2014. PMID: 24478274 Free article. Review.
Cantú syndrome is caused by mutations in ABCC9.
van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. van Bon BW, et al. Among authors: tsiakas k. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608503 Free PMC article.
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